Researchers Identify Gene Variant Linked to Glaucoma

An international team, led by researchers from the University of California, San Diego School of Medicine and the National Eye Institute, has discovered gene variants for glaucoma in a black population.

The study was conducted by Kang Zhang, MD, PhD, Director of the Institute for Genomic Medicine and professor of ophthalmology and human genetics at the Shiley Eye Center at UC San Diego and J. Fielding Hejtmancik, MD, PhD, medical officer and chief of the Ophthalmic Molecular Genetics Section at the National Eye Institute, National Institutes of Health, along with the Barbados Family Study Group and colleagues in the United States, China and Barbados.

“We have now identified very common gene variants that have a dramatic impact on an individual’s risk for developing glaucoma,” Zhang said. “These gene variants are present in 40 percent of individuals with glaucoma in the Barbados population and explains nearly one-third of their genetic risk for the disease.”

Looking at 249 patients with glaucoma and 128 control subjects, the research built on early studies which scanned the entire human genome. The scientists then homed in on a particular segment of the human genome, and finally localized the gene on chromosome 2.